Canonical Allele Identifier: CA2695105130

Gene: MECP2

Linked Data

• gnomAD v4: X-154097452-CCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154097463_154097662del , CM000685.2:g.154097463_154097662del	GRCh38
NC_000023.10:g.153362920_153363119del , CM000685.1:g.153362920_153363119del	GRCh37
NC_000023.9:g.153016114_153016313del	NCBI36
NG_007107.2:g.44470_44669del
NG_007107.3:g.44452_44651del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303391.11:c.-147_-99+151del
ENST00000453960.7:c.14_62+151del
ENST00000303391.10:c.-147_-99+151del
ENST00000369957.5:c.-147_-99+151del
ENST00000407218.5:c.14_62+151del
ENST00000453960.6:c.14_62+151del
ENST00000619732.4:c.-147_-99+151del
ENST00000627864.1:n.29_77+151del
ENST00000628176.2:c.-147_-99+151del
ENST00000631210.1:n.305+7129_305+7328del
NM_001110792.1:c.14_62+151del
NM_001316337.1:c.-594_-546+151del
NM_004992.3:c.-147_-99+151del
XM_005274682.3:c.-538_-490+151del
NM_001110792.2:c.14_62+151del
NM_001316337.2:c.-594_-546+151del
NM_001369391.2:c.-889_-841+151del
NM_001369392.2:c.-538_-490+151del
NM_001369393.2:c.-414_-366+151del
NM_001386137.1:c.-819_-771+151del
NM_001386138.1:c.-707_-659+151del
NM_001386139.1:c.-583_-535+151del
NM_004992.4:c.-147_-99+151del